Linked Data
ClinVar Variation Id:
429845
ClinVar RCV Id:
RCV000492837
RCV000764145
RCV001122194
RCV001122196
RCV001122193
RCV001252850
RCV001122195
RCV001122197
dbSNP Id:
rs147936148
ExAC:
17:62045401 C / T
gnomAD v2:
17-62045401-C-T
gnomAD v3:
17-63968041-C-T
gnomAD v4:
17-63968041-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63968041C>T , CM000679.2:g.63968041C>T | GRCh38 |
| NC_000017.10:g.62045401C>T , CM000679.1:g.62045401C>T | GRCh37 |
| NC_000017.9:g.59399133C>T | NCBI36 |
| NG_011699.1:g.9878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1018G>A MANE Select | ENSP00000396320.1:p.Ala340Thr | |
| ENST00000578147.5:c.1018G>A | ENSP00000463963.1:p.Ala340Thr | |
| NM_000334.4:c.1018G>A MANE Select | NP_000325.4:p.Ala340Thr | |
| XM_005257566.3:c.1018G>A | XP_005257623.1:p.Ala340Thr |